Canonical Allele Identifier: CA731446541

Gene: USH2A

Linked Data

• dbSNP Id: rs1457930115
• gnomAD v3: 1-216324137-TATTAA-T
• gnomAD v4: 1-216324137-TATTAA-T
• MyVariant Identifiers: chr1:g.216497480_216497484del (hg19) ; chr1:g.216324138_216324142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.216324143_216324147del , CM000663.2:g.216324143_216324147del	GRCh38
NC_000001.10:g.216497485_216497489del , CM000663.1:g.216497485_216497489del	GRCh37
NC_000001.9:g.214564108_214564112del	NCBI36
NG_009497.1:g.104255_104259del
NG_009497.2:g.104307_104311del

Transcript Alleles

HGVS	Amino-acid change
ENST00000307340.8:c.1328+26_1328+30del MANE Select	ENSP00000305941.3:n.1328+26_1328+30del
ENST00000674083.1:c.1328+26_1328+30del	ENSP00000501296.1:n.1328+26_1328+30del
ENST00000307340.7:c.1328+26_1328+30del	ENSP00000305941.3:n.1328+26_1328+30del
ENST00000366942.3:c.1328+26_1328+30del	ENSP00000355909.3:n.1328+26_1328+30del
NM_007123.5:c.1328+26_1328+30del	NP_009054.5:n.1328+26_1328+30del
NM_206933.2:c.1328+26_1328+30del	NP_996816.2:n.1328+26_1328+30del
NM_206933.3:c.1328+26_1328+30del	NP_996816.2:n.1328+26_1328+30del
NM_007123.6:c.1328+26_1328+30del	NP_009054.6:n.1328+26_1328+30del
NM_206933.4:c.1328+26_1328+30del MANE Select	NP_996816.3:n.1328+26_1328+30del